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Loss of Chromosome 2

MedGen UID:
276486
•Concept ID:
C1517973
•
Cell or Molecular Dysfunction
Synonym: del(2)

Definition

A cytogenic abnormality that refers to loss of all or part of chromosome 2. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 2

Professional guidelines

PubMed

Genome-wide association studies of alcohol dependence, DSM-IV criterion count and individual criteria.
Lai D, Wetherill L, Bertelsen S, Carey CE, Kamarajan C, Kapoor M, Meyers JL, Anokhin AP, Bennett DA, Bucholz KK, Chang KK, De Jager PL, Dick DM, Hesselbrock V, Kramer J, Kuperman S, Nurnberger JI Jr, Raj T, Schuckit M, Scott DM, Taylor RE, Tischfield J, Hariri AR, Edenberg HJ, Agrawal A, Bogdan R, Porjesz B, Goate AM, Foroud T
Genes Brain Behav 2019 Jul;18(6):e12579. Epub 2019 Jun 4 doi: 10.1111/gbb.12579. PMID: 31090166Free PMC Article
Lactose Intolerance, Dairy Avoidance, and Treatment Options.
Szilagyi A, Ishayek N
Nutrients 2018 Dec 15;10(12) doi: 10.3390/nu10121994. PMID: 30558337Free PMC Article
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.
Tassano E, Buttgereit J, Bader M, Lerone M, Divizia MT, Bocciardi R, Napoli F, Pala G, Sloan-Béna F, Gimelli S, Gimelli G
PLoS One 2013;8(6):e66048. Epub 2013 Jun 21 doi: 10.1371/journal.pone.0066048. PMID: 23805197Free PMC Article

Recent clinical studies

Etiology

Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
Furuya M, Iribe Y, Nagashima Y, Kambe N, Ohe C, Kinoshita H, Sato C, Kishida T, Okubo Y, Numakura K, Nanjo H, Nakaigawa N, Makiyama K, Hasumi H, Iwashita H, Ohta J, Kitamura H, Nakajima T, Yoshida T, Nakagawa M, Tanaka R, Yao M
J Clin Pathol 2020 Dec;73(12):819-825. Epub 2020 May 6 doi: 10.1136/jclinpath-2020-206548. PMID: 32376712
ZEB2 in T-cells and T-ALL.
De Coninck S, Berx G, Taghon T, Van Vlierberghe P, Goossens S
Adv Biol Regul 2019 Dec;74:100639. Epub 2019 Jul 27 doi: 10.1016/j.jbior.2019.100639. PMID: 31383581
Heterogeneity within the PF-EPN-B ependymoma subgroup.
Cavalli FMG, Hübner JM, Sharma T, Luu B, Sill M, Zapotocky M, Mack SC, Witt H, Lin T, Shih DJH, Ho B, Santi M, Emery L, Hukin J, Dunham C, McLendon RE, Lipp ES, Gururangan S, Grossbach A, French P, Kros JM, van Veelen MC, Rao AAN, Giannini C, Leary S, Jung S, Faria CC, Mora J, Schüller U, Alonso MM, Chan JA, Klekner A, Chambless LB, Hwang EI, Massimino M, Eberhart CG, Karajannis MA, Lu B, Liau LM, Zollo M, Ferrucci V, Carlotti C, Tirapelli DPC, Tabori U, Bouffet E, Ryzhova M, Ellison DW, Merchant TE, Gilbert MR, Armstrong TS, Korshunov A, Pfister SM, Taylor MD, Aldape K, Pajtler KW, Kool M, Ramaswamy V
Acta Neuropathol 2018 Aug;136(2):227-237. Epub 2018 Jul 17 doi: 10.1007/s00401-018-1888-x. PMID: 30019219Free PMC Article
Genetic Risk Factors for Radiation Vasculopathy.
Papakostas TD, Morrison MA, Lane AM, Awh C, DeAngelis MM, Gragoudas ES, Kim IK
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1547-1553. doi: 10.1167/iovs.17-22791. PMID: 29625478
Chromosome 3 translocations and familial renal cell cancer.
Bonné AC, Bodmer D, Schoenmakers EF, van Ravenswaaij CM, Hoogerbrugge N, van Kessel AG
Curr Mol Med 2004 Dec;4(8):849-54. doi: 10.2174/1566524043359593. PMID: 15579032

Diagnosis

Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas.
Furuya M, Iribe Y, Nagashima Y, Kambe N, Ohe C, Kinoshita H, Sato C, Kishida T, Okubo Y, Numakura K, Nanjo H, Nakaigawa N, Makiyama K, Hasumi H, Iwashita H, Ohta J, Kitamura H, Nakajima T, Yoshida T, Nakagawa M, Tanaka R, Yao M
J Clin Pathol 2020 Dec;73(12):819-825. Epub 2020 May 6 doi: 10.1136/jclinpath-2020-206548. PMID: 32376712
Genetic Risk Factors for Radiation Vasculopathy.
Papakostas TD, Morrison MA, Lane AM, Awh C, DeAngelis MM, Gragoudas ES, Kim IK
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1547-1553. doi: 10.1167/iovs.17-22791. PMID: 29625478
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature.
Zhang X, Zhang H, Hu C, Wang R, Xi Q, Liu R
Int Braz J Urol 2018 Jul-Aug;44(4):785-793. doi: 10.1590/S1677-5538.IBJU.2017.0233. PMID: 29219278Free PMC Article
Molecular biology of rhabdomyosarcoma.
Gallego Melcón S, Sánchez de Toledo Codina J
Clin Transl Oncol 2007 Jul;9(7):415-9. doi: 10.1007/s12094-007-0079-3. PMID: 17652054
Chromosome 3 translocations and familial renal cell cancer.
Bonné AC, Bodmer D, Schoenmakers EF, van Ravenswaaij CM, Hoogerbrugge N, van Kessel AG
Curr Mol Med 2004 Dec;4(8):849-54. doi: 10.2174/1566524043359593. PMID: 15579032

Therapy

Lactose Intolerance, Dairy Avoidance, and Treatment Options.
Szilagyi A, Ishayek N
Nutrients 2018 Dec 15;10(12) doi: 10.3390/nu10121994. PMID: 30558337Free PMC Article
Heterogeneity within the PF-EPN-B ependymoma subgroup.
Cavalli FMG, Hübner JM, Sharma T, Luu B, Sill M, Zapotocky M, Mack SC, Witt H, Lin T, Shih DJH, Ho B, Santi M, Emery L, Hukin J, Dunham C, McLendon RE, Lipp ES, Gururangan S, Grossbach A, French P, Kros JM, van Veelen MC, Rao AAN, Giannini C, Leary S, Jung S, Faria CC, Mora J, Schüller U, Alonso MM, Chan JA, Klekner A, Chambless LB, Hwang EI, Massimino M, Eberhart CG, Karajannis MA, Lu B, Liau LM, Zollo M, Ferrucci V, Carlotti C, Tirapelli DPC, Tabori U, Bouffet E, Ryzhova M, Ellison DW, Merchant TE, Gilbert MR, Armstrong TS, Korshunov A, Pfister SM, Taylor MD, Aldape K, Pajtler KW, Kool M, Ramaswamy V
Acta Neuropathol 2018 Aug;136(2):227-237. Epub 2018 Jul 17 doi: 10.1007/s00401-018-1888-x. PMID: 30019219Free PMC Article
Genetic Risk Factors for Radiation Vasculopathy.
Papakostas TD, Morrison MA, Lane AM, Awh C, DeAngelis MM, Gragoudas ES, Kim IK
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1547-1553. doi: 10.1167/iovs.17-22791. PMID: 29625478
Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives.
Mihai CM, Catrinoiu D, Marshall J, Stoicescu R, Tofolean IT
J Med Life 2008 Jul-Sep;1(3):254-61. PMID: 20108502Free PMC Article
Amplification of the MYCN oncogene and deletion of putative tumour suppressor gene in human neuroblastomas.
Schwab M
Brain Pathol 1990 Sep;1(1):41-6. doi: 10.1111/j.1750-3639.1990.tb00637.x. PMID: 1669692

Prognosis

Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome.
Bernstock JD, Totten AH, Elkahloun AG, Johnson KR, Hurst AC, Goldman F, Groves AK, Mikhail FM, Atkinson TP
J Allergy Clin Immunol 2020 Jan;145(1):358-367.e2. Epub 2019 Oct 7 doi: 10.1016/j.jaci.2019.09.020. PMID: 31600545Free PMC Article
Heterogeneity within the PF-EPN-B ependymoma subgroup.
Cavalli FMG, Hübner JM, Sharma T, Luu B, Sill M, Zapotocky M, Mack SC, Witt H, Lin T, Shih DJH, Ho B, Santi M, Emery L, Hukin J, Dunham C, McLendon RE, Lipp ES, Gururangan S, Grossbach A, French P, Kros JM, van Veelen MC, Rao AAN, Giannini C, Leary S, Jung S, Faria CC, Mora J, Schüller U, Alonso MM, Chan JA, Klekner A, Chambless LB, Hwang EI, Massimino M, Eberhart CG, Karajannis MA, Lu B, Liau LM, Zollo M, Ferrucci V, Carlotti C, Tirapelli DPC, Tabori U, Bouffet E, Ryzhova M, Ellison DW, Merchant TE, Gilbert MR, Armstrong TS, Korshunov A, Pfister SM, Taylor MD, Aldape K, Pajtler KW, Kool M, Ramaswamy V
Acta Neuropathol 2018 Aug;136(2):227-237. Epub 2018 Jul 17 doi: 10.1007/s00401-018-1888-x. PMID: 30019219Free PMC Article
Cytogenetics of hepatoblastoma.
Tomlinson GE
Front Biosci (Elite Ed) 2012 Jan 1;4(4):1287-92. doi: 10.2741/459. PMID: 22201954
Neuroblastoma--clinical applications of molecular parameters.
Brodeur GM
Brain Pathol 1990 Sep;1(1):47-54. doi: 10.1111/j.1750-3639.1990.tb00638.x. PMID: 1669693
Amplification of the MYCN oncogene and deletion of putative tumour suppressor gene in human neuroblastomas.
Schwab M
Brain Pathol 1990 Sep;1(1):41-6. doi: 10.1111/j.1750-3639.1990.tb00637.x. PMID: 1669692

Clinical prediction guides

Heterogeneity within the PF-EPN-B ependymoma subgroup.
Cavalli FMG, Hübner JM, Sharma T, Luu B, Sill M, Zapotocky M, Mack SC, Witt H, Lin T, Shih DJH, Ho B, Santi M, Emery L, Hukin J, Dunham C, McLendon RE, Lipp ES, Gururangan S, Grossbach A, French P, Kros JM, van Veelen MC, Rao AAN, Giannini C, Leary S, Jung S, Faria CC, Mora J, Schüller U, Alonso MM, Chan JA, Klekner A, Chambless LB, Hwang EI, Massimino M, Eberhart CG, Karajannis MA, Lu B, Liau LM, Zollo M, Ferrucci V, Carlotti C, Tirapelli DPC, Tabori U, Bouffet E, Ryzhova M, Ellison DW, Merchant TE, Gilbert MR, Armstrong TS, Korshunov A, Pfister SM, Taylor MD, Aldape K, Pajtler KW, Kool M, Ramaswamy V
Acta Neuropathol 2018 Aug;136(2):227-237. Epub 2018 Jul 17 doi: 10.1007/s00401-018-1888-x. PMID: 30019219Free PMC Article
Clinical features of carriers of reciprocal chromosomal translocations involving chromosome 2: report of nine cases and review of the literature.
Zhang X, Zhang H, Hu C, Wang R, Xi Q, Liu R
Int Braz J Urol 2018 Jul-Aug;44(4):785-793. doi: 10.1590/S1677-5538.IBJU.2017.0233. PMID: 29219278Free PMC Article
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
Mathieu ML, Demily C, Chantot-Bastaraud S, Afenjar A, Mignot C, Andrieux J, Gerard M, Catala-Mora J, Jouk PS, Labalme A, Edery P, Sanlaville D, Rossi M
Am J Med Genet A 2017 Aug;173(8):2268-2274. Epub 2017 Jun 9 doi: 10.1002/ajmg.a.38307. PMID: 28599093
Cytogenetics of hepatoblastoma.
Tomlinson GE
Front Biosci (Elite Ed) 2012 Jan 1;4(4):1287-92. doi: 10.2741/459. PMID: 22201954
Familial acromegaly.
Frohman LA, Eguchi K
Growth Horm IGF Res 2004 Jun;14 Suppl A:S90-6. doi: 10.1016/j.ghir.2004.03.021. PMID: 15135786

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